Incidental Mutation 'R7008:Sipa1l1'
| ID |
544851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sipa1l1
|
| Ensembl Gene |
ENSMUSG00000042700 |
| Gene Name |
signal-induced proliferation-associated 1 like 1 |
| Synonyms |
Spar, 4931426N11Rik |
| MMRRC Submission |
045110-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7008 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
82216138-82498560 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 82409886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 600
(M600R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053969]
[ENSMUST00000166429]
[ENSMUST00000220963]
[ENSMUST00000222298]
[ENSMUST00000222714]
|
| AlphaFold |
Q8C0T5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053969
AA Change: M600R
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000061014
Gene: ENSMUSG00000042700
AA Change: M600R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
449 |
N/A |
INTRINSIC |
|
Pfam:Rap_GAP
|
628 |
810 |
8.9e-70 |
PFAM |
|
PDZ
|
962 |
1028 |
2.63e-9 |
SMART |
|
low complexity region
|
1149 |
1164 |
N/A |
INTRINSIC |
|
low complexity region
|
1255 |
1279 |
N/A |
INTRINSIC |
|
low complexity region
|
1315 |
1328 |
N/A |
INTRINSIC |
|
low complexity region
|
1432 |
1447 |
N/A |
INTRINSIC |
|
Pfam:SPAR_C
|
1483 |
1727 |
4.4e-86 |
PFAM |
|
low complexity region
|
1731 |
1746 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166429
AA Change: M600R
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131030
Gene: ENSMUSG00000042700
AA Change: M600R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
449 |
N/A |
INTRINSIC |
|
Pfam:Rap_GAP
|
628 |
816 |
1.3e-64 |
PFAM |
|
PDZ
|
962 |
1028 |
1.3e-11 |
SMART |
|
low complexity region
|
1149 |
1164 |
N/A |
INTRINSIC |
|
low complexity region
|
1255 |
1279 |
N/A |
INTRINSIC |
|
low complexity region
|
1315 |
1328 |
N/A |
INTRINSIC |
|
low complexity region
|
1432 |
1447 |
N/A |
INTRINSIC |
|
Pfam:DUF3401
|
1483 |
1727 |
1.8e-91 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220963
AA Change: M600R
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222298
AA Change: M600R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222714
AA Change: M600R
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
T |
A |
5: 90,407,955 (GRCm39) |
I1421F |
possibly damaging |
Het |
| Arhgef11 |
C |
A |
3: 87,636,525 (GRCm39) |
T992K |
possibly damaging |
Het |
| Arid1b |
T |
C |
17: 5,341,254 (GRCm39) |
Y853H |
probably damaging |
Het |
| Bcl10 |
G |
T |
3: 145,639,054 (GRCm39) |
R232L |
probably benign |
Het |
| Best2 |
T |
A |
8: 85,739,840 (GRCm39) |
I76F |
possibly damaging |
Het |
| Card11 |
G |
C |
5: 140,859,148 (GRCm39) |
R1133G |
probably damaging |
Het |
| Card9 |
T |
C |
2: 26,247,811 (GRCm39) |
D180G |
possibly damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,428,411 (GRCm39) |
E119V |
probably damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,098,785 (GRCm39) |
D771G |
probably benign |
Het |
| Cd2bp2 |
T |
C |
7: 126,794,567 (GRCm39) |
D15G |
possibly damaging |
Het |
| Cdk7 |
A |
C |
13: 100,854,129 (GRCm39) |
M120R |
probably damaging |
Het |
| Cryba4 |
T |
A |
5: 112,399,648 (GRCm39) |
T2S |
probably benign |
Het |
| Cyp19a1 |
A |
T |
9: 54,100,609 (GRCm39) |
M26K |
probably benign |
Het |
| Dgcr2 |
A |
G |
16: 17,662,865 (GRCm39) |
S157P |
probably damaging |
Het |
| Dis3l |
A |
G |
9: 64,217,735 (GRCm39) |
F782S |
possibly damaging |
Het |
| Ephb4 |
T |
A |
5: 137,359,536 (GRCm39) |
S369T |
probably benign |
Het |
| Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
| H1f4 |
T |
C |
13: 23,806,192 (GRCm39) |
K97E |
probably damaging |
Het |
| Igf2bp2 |
A |
T |
16: 21,900,582 (GRCm39) |
D118E |
probably benign |
Het |
| Iqgap3 |
GGAGAG |
GGAG |
3: 88,020,078 (GRCm39) |
|
probably null |
Het |
| Klhl5 |
T |
C |
5: 65,300,592 (GRCm39) |
S52P |
probably benign |
Het |
| Lrrc28 |
A |
T |
7: 67,245,459 (GRCm39) |
|
probably benign |
Het |
| Map4k4 |
T |
G |
1: 40,028,131 (GRCm39) |
D317E |
probably benign |
Het |
| Maz |
A |
T |
7: 126,623,784 (GRCm39) |
C66S |
probably damaging |
Het |
| Mbd4 |
T |
C |
6: 115,827,685 (GRCm39) |
T43A |
possibly damaging |
Het |
| Milr1 |
T |
A |
11: 106,642,140 (GRCm39) |
S11T |
probably damaging |
Het |
| Mthfd2l |
T |
A |
5: 91,107,587 (GRCm39) |
C150S |
probably damaging |
Het |
| Nemf |
A |
T |
12: 69,388,395 (GRCm39) |
N325K |
possibly damaging |
Het |
| Nemf |
C |
T |
12: 69,400,567 (GRCm39) |
|
probably null |
Het |
| Nod2 |
T |
A |
8: 89,390,285 (GRCm39) |
C197* |
probably null |
Het |
| Odf2l |
A |
G |
3: 144,838,495 (GRCm39) |
K241E |
probably damaging |
Het |
| Or4z4 |
G |
A |
19: 12,076,214 (GRCm39) |
T263I |
possibly damaging |
Het |
| Or5b124 |
A |
T |
19: 13,610,985 (GRCm39) |
N170I |
probably damaging |
Het |
| Osbpl10 |
T |
G |
9: 114,890,916 (GRCm39) |
D101E |
probably damaging |
Het |
| Osgin1 |
T |
C |
8: 120,168,233 (GRCm39) |
V20A |
possibly damaging |
Het |
| Pan3 |
T |
A |
5: 147,482,503 (GRCm39) |
C438S |
probably damaging |
Het |
| Plaa |
A |
G |
4: 94,457,586 (GRCm39) |
*795Q |
probably null |
Het |
| Prss35 |
T |
C |
9: 86,638,361 (GRCm39) |
V377A |
probably benign |
Het |
| Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
| Rasl12 |
G |
A |
9: 65,318,151 (GRCm39) |
V172M |
probably damaging |
Het |
| Rdh16f1 |
A |
G |
10: 127,626,775 (GRCm39) |
H276R |
probably benign |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Sez6l |
T |
C |
5: 112,612,561 (GRCm39) |
Y460C |
probably damaging |
Het |
| Slc11a2 |
T |
C |
15: 100,307,205 (GRCm39) |
Y92C |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,117,266 (GRCm39) |
T712A |
probably benign |
Het |
| Sntb1 |
A |
T |
15: 55,655,468 (GRCm39) |
Y249* |
probably null |
Het |
| Spatc1 |
A |
G |
15: 76,167,923 (GRCm39) |
I127M |
probably benign |
Het |
| Sting1 |
C |
A |
18: 35,868,224 (GRCm39) |
R292L |
probably damaging |
Het |
| Synj1 |
A |
T |
16: 90,790,833 (GRCm39) |
N109K |
probably damaging |
Het |
| Tdg |
T |
A |
10: 82,484,475 (GRCm39) |
M396K |
possibly damaging |
Het |
| Tmem252 |
T |
C |
19: 24,651,656 (GRCm39) |
V75A |
probably damaging |
Het |
| Trim40 |
T |
C |
17: 37,194,868 (GRCm39) |
Q142R |
probably damaging |
Het |
| Trip6 |
T |
C |
5: 137,311,228 (GRCm39) |
T163A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,724,986 (GRCm39) |
|
probably benign |
Het |
| Wdr95 |
T |
C |
5: 149,535,005 (GRCm39) |
L721P |
probably benign |
Het |
| Zfp385c |
A |
T |
11: 100,521,513 (GRCm39) |
D182E |
probably damaging |
Het |
| Zfp597 |
A |
G |
16: 3,683,631 (GRCm39) |
F375S |
probably benign |
Het |
| Zfp658 |
T |
G |
7: 43,223,336 (GRCm39) |
F537C |
possibly damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,355,421 (GRCm39) |
F216L |
probably benign |
Het |
|
| Other mutations in Sipa1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01309:Sipa1l1
|
APN |
12 |
82,434,470 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01478:Sipa1l1
|
APN |
12 |
82,493,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01620:Sipa1l1
|
APN |
12 |
82,469,263 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02496:Sipa1l1
|
APN |
12 |
82,471,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02550:Sipa1l1
|
APN |
12 |
82,487,723 (GRCm39) |
nonsense |
probably null |
|
|
IGL02689:Sipa1l1
|
APN |
12 |
82,487,594 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02706:Sipa1l1
|
APN |
12 |
82,444,207 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02995:Sipa1l1
|
APN |
12 |
82,404,105 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL03104:Sipa1l1
|
APN |
12 |
82,388,904 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03295:Sipa1l1
|
APN |
12 |
82,479,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bullae
|
UTSW |
12 |
82,389,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bullish
|
UTSW |
12 |
82,469,245 (GRCm39) |
nonsense |
probably null |
|
|
ebullient
|
UTSW |
12 |
82,388,446 (GRCm39) |
missense |
probably benign |
0.18 |
|
PIT4431001:Sipa1l1
|
UTSW |
12 |
82,443,290 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0140:Sipa1l1
|
UTSW |
12 |
82,442,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0348:Sipa1l1
|
UTSW |
12 |
82,431,530 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0534:Sipa1l1
|
UTSW |
12 |
82,472,054 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0538:Sipa1l1
|
UTSW |
12 |
82,471,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0547:Sipa1l1
|
UTSW |
12 |
82,484,510 (GRCm39) |
missense |
probably benign |
|
|
R0980:Sipa1l1
|
UTSW |
12 |
82,388,994 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1051:Sipa1l1
|
UTSW |
12 |
82,496,119 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1244:Sipa1l1
|
UTSW |
12 |
82,472,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1473:Sipa1l1
|
UTSW |
12 |
82,387,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1508:Sipa1l1
|
UTSW |
12 |
82,487,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1563:Sipa1l1
|
UTSW |
12 |
82,387,935 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1671:Sipa1l1
|
UTSW |
12 |
82,444,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1935:Sipa1l1
|
UTSW |
12 |
82,419,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1950:Sipa1l1
|
UTSW |
12 |
82,388,233 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2191:Sipa1l1
|
UTSW |
12 |
82,443,465 (GRCm39) |
nonsense |
probably null |
|
|
R2249:Sipa1l1
|
UTSW |
12 |
82,388,890 (GRCm39) |
missense |
probably benign |
|
|
R2909:Sipa1l1
|
UTSW |
12 |
82,404,105 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4012:Sipa1l1
|
UTSW |
12 |
82,388,556 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4154:Sipa1l1
|
UTSW |
12 |
82,471,988 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4382:Sipa1l1
|
UTSW |
12 |
82,493,596 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4448:Sipa1l1
|
UTSW |
12 |
82,388,524 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4651:Sipa1l1
|
UTSW |
12 |
82,469,245 (GRCm39) |
nonsense |
probably null |
|
|
R4652:Sipa1l1
|
UTSW |
12 |
82,469,245 (GRCm39) |
nonsense |
probably null |
|
|
R4751:Sipa1l1
|
UTSW |
12 |
82,387,968 (GRCm39) |
missense |
probably benign |
|
|
R4755:Sipa1l1
|
UTSW |
12 |
82,419,160 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4888:Sipa1l1
|
UTSW |
12 |
82,389,107 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4912:Sipa1l1
|
UTSW |
12 |
82,443,452 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4937:Sipa1l1
|
UTSW |
12 |
82,388,103 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5068:Sipa1l1
|
UTSW |
12 |
82,484,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5113:Sipa1l1
|
UTSW |
12 |
82,487,682 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5114:Sipa1l1
|
UTSW |
12 |
82,487,682 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5240:Sipa1l1
|
UTSW |
12 |
82,388,362 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6041:Sipa1l1
|
UTSW |
12 |
82,389,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6048:Sipa1l1
|
UTSW |
12 |
82,487,643 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6170:Sipa1l1
|
UTSW |
12 |
82,388,446 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6185:Sipa1l1
|
UTSW |
12 |
82,471,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6326:Sipa1l1
|
UTSW |
12 |
82,419,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6842:Sipa1l1
|
UTSW |
12 |
82,467,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7058:Sipa1l1
|
UTSW |
12 |
82,449,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7069:Sipa1l1
|
UTSW |
12 |
82,388,180 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7122:Sipa1l1
|
UTSW |
12 |
82,469,236 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7310:Sipa1l1
|
UTSW |
12 |
82,419,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7469:Sipa1l1
|
UTSW |
12 |
82,467,438 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7718:Sipa1l1
|
UTSW |
12 |
82,389,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7787:Sipa1l1
|
UTSW |
12 |
82,496,762 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7844:Sipa1l1
|
UTSW |
12 |
82,444,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7893:Sipa1l1
|
UTSW |
12 |
82,388,342 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7953:Sipa1l1
|
UTSW |
12 |
82,496,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8043:Sipa1l1
|
UTSW |
12 |
82,496,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8099:Sipa1l1
|
UTSW |
12 |
82,480,600 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8135:Sipa1l1
|
UTSW |
12 |
82,388,075 (GRCm39) |
missense |
probably benign |
|
|
R8229:Sipa1l1
|
UTSW |
12 |
82,484,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8348:Sipa1l1
|
UTSW |
12 |
82,443,045 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8388:Sipa1l1
|
UTSW |
12 |
82,216,259 (GRCm39) |
unclassified |
probably benign |
|
|
R8693:Sipa1l1
|
UTSW |
12 |
82,216,517 (GRCm39) |
unclassified |
probably benign |
|
|
R8826:Sipa1l1
|
UTSW |
12 |
82,389,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8884:Sipa1l1
|
UTSW |
12 |
82,409,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8940:Sipa1l1
|
UTSW |
12 |
82,404,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8975:Sipa1l1
|
UTSW |
12 |
82,479,612 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9145:Sipa1l1
|
UTSW |
12 |
82,443,335 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9328:Sipa1l1
|
UTSW |
12 |
82,388,792 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9455:Sipa1l1
|
UTSW |
12 |
82,434,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9486:Sipa1l1
|
UTSW |
12 |
82,404,139 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9631:Sipa1l1
|
UTSW |
12 |
82,387,776 (GRCm39) |
start codon destroyed |
probably null |
0.39 |
|
R9727:Sipa1l1
|
UTSW |
12 |
82,471,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9753:Sipa1l1
|
UTSW |
12 |
82,463,763 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTAGCTCATGACGCTGAGG -3'
(R):5'- TGCCAGTGACCACAGAAAG -3'
Sequencing Primer
(F):5'- ACGCTGAGGGGGTCTGTC -3'
(R):5'- AGCCCTCTATCAGCTTTGTTATAGAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation